Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis

Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis

Inborn errors of bile acid metabolism (IEBAM) cause cholestasis during the neonatal period, and 8 types of IEBAM have been reported to date. IEBAM accounts for approximately 2% of cases of cholestasis of unknown cause. As only 10 patients have been identified in Japan, IEBAM presents diagnostic chal...

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Chi tiết về thư mục
Những tác giả chính: Hiroshi Nittono, Mitsuyoshi Suzuki, Hiromi Suzuki, Satoru Sugimoto, Jun Mori, Rieko Sakamoto, Yugo Takaki, Hisamitsu Hayashi, Hajime Takei, Akihiko Kimura
Định dạng: Bài viết
Ngôn ngữ:English
Được phát hành: Frontiers Media S.A. 2024-04-01
Loạt:Frontiers in Pediatrics
Những chủ đề:
inborn errors of bile acid metabolism
serum total bile acid
γ-glutamyltransferase
biliary atresia
open cholangiography
Truy cập trực tuyến:https://www.frontiersin.org/articles/10.3389/fped.2024.1385970/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2024.1385970/full

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